A42P (p.Ala42Pro) variant of FBN1 (Fibrillin-1)
A42P (p.Ala42Pro) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
A42P (p.Ala42Pro) variant details
- p.Ala42Pro
- rs377722423
- ClinGen CA044063
- ClinVar RCV000458251
- ClinVar RCV000729437
- Likely benign
- Missense
- REVEL 0.40
- MetaLR 0.45
- MetaSVM -0.11
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)